A17P (p.Ala17Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
A17P (p.Ala17Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 21-46111520-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 16.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available